MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: Epstein syndrome (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 GeneticVariation disease BEFREE Epstein syndrome nephropathy due to a severe MYH9 gene mutation can be refractory and progress rapidly; therefore, early and accurate diagnosis is important for safer therapeutic options including pre-emptive renal transplantation. 29532554 2019
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease CLINGEN R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 24890873 2015
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease CLINGEN c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. 25505834 2014
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease CLINGEN Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability. 23976996 2013
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease CLINGEN Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. 21908426 2012
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease MGD Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. 21908426 2012
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease CLINGEN Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. 21542825 2011
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease BEFREE Genetic studies confirmed mutations in the gene encoding the myosin heavy chain (MYH-9), and Epstein Syndrome was diagnosed. 19839854 2009
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 GeneticVariation disease BEFREE MYH9 R702 mutations are highly associated with Alport manifestations and result in Epstein syndrome. 17241369 2007
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease BEFREE Hereditary thrombocytopenias characterized by mutations in the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA) are known as MYH9-related hereditary macrothrombocytopenia, and include the May-Hegglin anomaly, Sebastian platelet syndrome, Fechtner syndrome, and Epstein syndrome. 17655694 2007
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease CLINGEN Cochlear implants for DFNA17 deafness. 17146397 2006
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease CLINGEN Expression of Myh9 in the mammalian cochlea: localization within the stereocilia. 16862555 2006
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease CLINGEN Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources. 16630581 2006
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease CLINGEN Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. 15339844 2005
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease CLINGEN Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. 16162639 2005
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 GeneticVariation disease BEFREE We identified a MYH9 missense mutation in two EPTS familial cases. 11935325 2002
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 GeneticVariation disease BEFREE Moreover, it is demonstrated that MYH9 mutations also result in two other FTNS-like macrothrombocytopenia syndromes: Epstein syndrome (EPS) and Alport syndrome with macrothrombocytopenia (APSM). 11590545 2001
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease CLINGEN A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828 1998